Variant report

Variant	rs12465665
Chromosome Location	chr2:174011668-174011669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:174011042..174014620-chr2:174016771..174020819,3	MCF-7	breast:
2	chr2:174001713..174004612-chr2:174011601..174013779,2	K562	blood:
3	chr2:173998706..174001151-chr2:174010395..174012464,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12996371	0.96[ASN][1000 genomes]
rs16861266	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16861269	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16861279	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16861295	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16861323	1.00[EUR][1000 genomes]
rs2053964	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2119124	1.00[EUR][1000 genomes]
rs2289395	0.89[EUR][1000 genomes]
rs3769164	1.00[EUR][1000 genomes]
rs3769175	1.00[EUR][1000 genomes]
rs3769183	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3769190	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769206	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3769208	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4632313	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56676752	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59935415	0.94[EUR][1000 genomes]
rs61032750	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73971702	0.81[EUR][1000 genomes]
rs7571788	1.00[EUR][1000 genomes]
rs7602751	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173996600-174012800	Weak transcription	Ovary	ovary
2	chr2:173996600-174013400	Weak transcription	Aorta	Aorta
3	chr2:174001600-174012800	Weak transcription	Left Ventricle	heart
4	chr2:174001600-174013200	Weak transcription	HUVEC	blood vessel
5	chr2:174002000-174012800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:174002200-174012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:174002200-174012800	Weak transcription	Osteobl	bone
8	chr2:174002200-174014600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:174002200-174014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:174002800-174013000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:174005600-174012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:174006600-174014400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:174007800-174021000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:174007800-174021000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:174008000-174013600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:174008600-174020800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:174009400-174013200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:174010400-174013200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:174010800-174011800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:174011000-174012200	Enhancers	A549	lung
21	chr2:174011200-174012400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:174011200-174012800	Weak transcription	NHEK	skin
23	chr2:174011200-174013200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:174011400-174011800	Enhancers	NHDF-Ad	bronchial
25	chr2:174011400-174012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:174011400-174012800	Weak transcription	Fetal Heart	heart
27	chr2:174011600-174011800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:174011600-174012800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:174011600-174012800	Weak transcription	HMEC	breast
30	chr2:174011600-174012800	Weak transcription	NHLF	lung
31	chr2:174011600-174013000	Weak transcription	Stomach Smooth Muscle	stomach

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